RYR3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1651

<< First< Prev

Page of 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 146811	GRCh38/hg38 15q13.3-14(chr15:33177238-33517440)x1	FMN1, LOC130056729 +5 more	Copy number loss	See cases	GUncertain significance
Select item 857441	NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)	RYR3 (G4A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 531023	NM_001036.6(RYR3):c.13G>A (p.Gly5Arg)	RYR3 (G5R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1006560	NM_001036.6(RYR3):c.14G>A (p.Gly5Glu)	RYR3 (G5E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 747459	NM_001036.6(RYR3):c.15A>G (p.Gly5=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 531143	NM_001036.6(RYR3):c.17A>G (p.Glu6Gly)	RYR3 (E6G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3157360	NM_001036.6(RYR3):c.23G>A (p.Gly8Asp)	RYR3 (G8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 646212	NM_001036.6(RYR3):c.30C>A (p.Asp10Glu)	RYR3 (D10E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763006	NM_001036.6(RYR3):c.46A>C (p.Arg16=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 763007	NM_001036.6(RYR3):c.51+9C>T	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 461924	NM_001036.6(RYR3):c.52-8_52-6del	RYR3	Deletion (intron variant)	Epileptic encephalopathy	GBenign
Select item 1150256	NM_001036.6(RYR3):c.57T>C (p.Asp19=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1152243	NM_001036.6(RYR3):c.78C>T (p.Ile26=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 461962	NM_001036.6(RYR3):c.78C>A (p.Ile26=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign
Select item 1052415	NM_001036.6(RYR3):c.79G>A (p.Ala27Thr)	RYR3 (A27T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 962923	NM_001036.6(RYR3):c.80C>A (p.Ala27Asp)	RYR3 (A27D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 730338	NM_001036.6(RYR3):c.120C>T (p.Ala40=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2457360	NM_001036.6(RYR3):c.136C>T (p.Arg46Cys)	RYR3 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1395319	NM_001036.6(RYR3):c.137G>A (p.Arg46His)	RYR3 (R46H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 461880	NM_001036.6(RYR3):c.147C>T (p.Phe49=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 566963	NM_001036.6(RYR3):c.160T>G (p.Ser54Ala)	RYR3 (S54A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1053470	NM_001036.6(RYR3):c.161C>T (p.Ser54Leu)	RYR3 (S54L)	Single nucleotide variant (missense variant)	Congenital myopathy 20 +1 more	GUncertain significance
Select item 1062277	NM_001036.6(RYR3):c.178C>G (p.Pro60Ala)	RYR3 (P60A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 864076	NM_001036.6(RYR3):c.191G>A (p.Cys64Tyr)	RYR3 (C64Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1101119	NM_001036.6(RYR3):c.192C>T (p.Cys64=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1002099	NM_001036.6(RYR3):c.193G>A (p.Val65Ile)	RYR3 (V65I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1126551	NM_001036.6(RYR3):c.222A>G (p.Leu74=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 765674	NM_001036.6(RYR3):c.234C>A (p.Ala78=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 946441	NM_001036.6(RYR3):c.251C>T (p.Ala84Val)	RYR3 (A84V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 582322	NM_001036.6(RYR3):c.264A>C (p.Glu88Asp)	RYR3 (E88D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 957953	NM_001036.6(RYR3):c.269GCG[1] (p.Gly91del)	RYR3 (G91del)	Microsatellite (inframe_deletion)	Epileptic encephalopathy	GUncertain significance
Select item 531149	NM_001036.6(RYR3):c.270C>T (p.Gly90=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2276386	NM_001036.6(RYR3):c.271G>A (p.Gly91Ser)	RYR3 (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052673	NM_001036.6(RYR3):c.273C>T (p.Gly91=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 657760	NM_001036.6(RYR3):c.274G>A (p.Glu92Lys)	RYR3 (E92K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1110877	NM_001036.6(RYR3):c.279+8C>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1593671	NM_001036.6(RYR3):c.279+11G>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 2627265	NM_001036.6(RYR3):c.280-12T>C	RYR3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 461898	NM_001036.6(RYR3):c.280-7C>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1094198	NM_001036.6(RYR3):c.280-5C>T	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 772575	NM_001036.6(RYR3):c.282A>G (p.Ala94=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414667	NM_001036.6(RYR3):c.287A>G (p.Gln96Arg)	RYR3 (Q96R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 778544	NM_001036.6(RYR3):c.288A>G (p.Gln96=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 1080618	NM_001036.6(RYR3):c.297C>T (p.Gly99=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 992769	NM_001036.6(RYR3):c.302G>A (p.Arg101Lys)	RYR3 (R101K)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 751204	NM_001036.6(RYR3):c.315C>T (p.Tyr105=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1144188	NM_001036.6(RYR3):c.339C>T (p.His113=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 461904	NM_001036.6(RYR3):c.348C>T (p.Ser116=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 461905	NM_001036.6(RYR3):c.349G>A (p.Gly117Arg)	RYR3 (G117R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1053571	NM_001036.6(RYR3):c.354+4A>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 967860	NM_001036.6(RYR3):c.354+5G>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 461907	NM_001036.6(RYR3):c.363A>G (p.Thr121=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3157364	NM_001036.6(RYR3):c.392A>G (p.Asp131Gly)	RYR3 (D131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931069	NM_001036.6(RYR3):c.393C>A (p.Asp131Glu)	RYR3 (D131E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 531003	NM_001036.6(RYR3):c.418C>T (p.Arg140Trp)	RYR3 (R140W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3315910	NM_001036.6(RYR3):c.425A>G (p.His142Arg)	RYR3 (H142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707600	NM_001036.6(RYR3):c.434-5T>C	RYR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1055970	NM_001036.6(RYR3):c.454A>G (p.Ile152Val)	RYR3 (I152V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1045575	NM_001036.6(RYR3):c.454A>T (p.Ile152Leu)	RYR3 (I152L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1095379	NM_001036.6(RYR3):c.498A>C (p.Arg166=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1010818	NM_001036.6(RYR3):c.511C>T (p.Leu171Phe)	RYR3 (L171F)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1118458	NM_001036.6(RYR3):c.519C>T (p.Leu173=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 658214	NM_001036.6(RYR3):c.526G>A (p.Val176Met)	RYR3 (V176M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1128190	NM_001036.6(RYR3):c.547-5T>C	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 795784	NM_001036.6(RYR3):c.552C>G (p.Leu184=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 658143	NM_001036.6(RYR3):c.556G>A (p.Val186Ile)	RYR3 (V186I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1087189	NM_001036.6(RYR3):c.561A>C (p.Ser187=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 936529	NM_001036.6(RYR3):c.565G>A (p.Gly189Ser)	RYR3 (G189S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1054339	NM_001036.6(RYR3):c.571A>G (p.Ile191Val)	RYR3 (I191V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1057595	NM_001036.6(RYR3):c.578T>G (p.Val193Gly)	RYR3 (V193G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 582789	NM_001036.6(RYR3):c.592A>G (p.Met198Val)	RYR3 (M198V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1165950	NM_001036.6(RYR3):c.621G>A (p.Thr207=)	RYR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1054357	NM_001036.6(RYR3):c.625T>C (p.Ser209Pro)	RYR3 (S209P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 855985	NM_001036.6(RYR3):c.639C>G (p.Ile213Met)	RYR3 (I213M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 566501	NM_001036.6(RYR3):c.648A>G (p.Gly216=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1130507	NM_001036.6(RYR3):c.663G>A (p.Gly221=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 862768	NM_001036.6(RYR3):c.674G>A (p.Arg225His)	RYR3 (R225H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 965898	NM_001036.6(RYR3):c.683A>G (p.His228Arg)	RYR3 (H228R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1050929	NM_001036.6(RYR3):c.688C>G (p.His230Asp)	RYR3 (H230D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 639263	NM_001036.6(RYR3):c.697T>C (p.Cys233Arg)	RYR3 (C233R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1055430	NM_001036.6(RYR3):c.703A>G (p.Thr235Ala)	RYR3 (T235A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 843777	NM_001036.6(RYR3):c.704C>T (p.Thr235Met)	RYR3 (T235M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 968732	NM_001036.6(RYR3):c.708A>G (p.Ile236Met)	RYR3 (I236M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 576693	NM_001036.6(RYR3):c.720C>A (p.Asp240Glu)	RYR3 (D240E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531130	NM_001036.6(RYR3):c.725A>G (p.Asn242Ser)	RYR3 (N242S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1083514	NM_001036.6(RYR3):c.741-7C>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1132220	NM_001036.6(RYR3):c.741-4A>C	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 3315930	NM_001036.6(RYR3):c.754G>A (p.Glu252Lys)	RYR3 (E252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1080718	NM_001036.6(RYR3):c.762G>A (p.Gly254=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 530997	NM_001036.6(RYR3):c.766G>A (p.Ala256Thr)	RYR3 (A256T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3027194	NM_001036.6(RYR3):c.773C>T (p.Thr258Ile)	RYR3 (T258I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523907	NM_001036.6(RYR3):c.775C>T (p.Arg259Ter)	RYR3 (R259*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 658419	NM_001036.6(RYR3):c.776G>A (p.Arg259Gln)	RYR3 (R259Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance

<< First< Prev

Page of 17